MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| HbA1C | 0.0339 | 0.0123 | 0.00585 | Wald ratio | 1 | cis | NA |
| Lung cancer | 0.16 | 0.0602 | 0.00803 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: joint disorder | 0.245 | 0.101 | 0.0149 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | -0.186 | 0.0826 | 0.0239 | Wald ratio | 1 | cis | NA |
| Clear cell ovarian cancer | 0.335 | 0.15 | 0.0255 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting | 0.243 | 0.11 | 0.0272 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.0802 | 0.0368 | 0.0292 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | 0.0488 | 0.0232 | 0.0357 | Wald ratio | 1 | cis | NA |
| Serum creatinine (eGFRcrea) | -0.00629 | 0.003 | 0.0357 | Wald ratio | 1 | cis | NA |
| Coronary heart disease | 0.0719 | 0.0344 | 0.0368 | Wald ratio | 1 | cis | NA |
| HOMA-B | -0.0243 | 0.0117 | 0.0378 | Wald ratio | 1 | cis | NA |
| Years of schooling | 0.03 | 0.015 | 0.0455 | Wald ratio | 1 | cis | NA |
| …and 85 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
37 association rows across 32 traits (34 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait | best p | lead SNP | n assoc | study | MR status |
|---|---|---|---|---|---|
| FAM171B protein levels | 2e-153 | rs371859516 | 3 | GCST90469183 | no MR -> candidate analysis |
| Serum levels of protein FAM171B | 2e-62 | rs7568974 | 2 | GCST90090339 | no MR -> candidate analysis |
| Blood protein levels | 1e-41 | rs76851721 | 2 | GCST006585 | no MR -> candidate analysis |
| Protein FAM171B levels | 6e-39 | rs76851721 | 1 | GCST90247528 | no MR -> candidate analysis |
| Protein FAM171B levels (FAM171B.8851.42.3) | 1e-29 | rs10931256 | 1 | GCST90242453 | no MR -> candidate analysis |
| Circulating ITGB5 levels | 5e-21 | rs35986780 | 1 | GCST90860040 | no MR -> candidate analysis |
| ITGAV protein levels | 3e-20 | rs77114321 | 1 | GCST90469639 | no MR -> candidate analysis |
| Lung function (FEV1/FVC) | 1e-18 | rs13027560 | 1 | GCST007080 | no MR -> candidate analysis |
| FEV1 FVC ratio Z score (UKB data field 20258) | 6e-15 | rs4666712 | 1 | GCST90468165 | no MR -> candidate analysis |
| Circulating EDIL3 levels | 1e-14 | rs55666589 | 2 | GCST90860282 | no MR -> candidate analysis |
| EDIL3 protein levels | 5e-12 | rs55666589 | 1 | GCST90469072 | no MR -> candidate analysis |
| Circulating TNFRSF11B levels (id: OID00571_OID20735) | 6e-12 | rs2594701 | 1 | GCST90859920 | no MR -> candidate analysis |
| …and 20 more traits (see JSON) |
Top diseases by Open Targets association (of 74 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease | genetic assoc. | burden (ExWAS) | causal status | MR status |
|---|---|---|---|---|
| neuromuscular disease | 0.428 | — | common-variant locus | no MR -> candidate analysis |
| iron metabolism disease | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| inflammatory bowel disease | 0.342 | — | common-variant locus | no MR -> candidate analysis |
| self-injurious ideation | 0.303 | — | common-variant locus | no MR -> candidate analysis |
| handedness | 0.129 | — | common-variant locus | no MR -> candidate analysis |
| Ascher syndrome | 0.061 | — | common-variant locus | no MR -> candidate analysis |
| breast cancer | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| glaucoma | 0.057 | — | common-variant locus | MR: beta=0.1, p=0.13 (cis) |
| arthropathy | 0.056 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.054 | — | common-variant locus | no MR -> candidate analysis |
| ventricular fibrillation | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| sleep apnea syndrome | 0.041 | — | common-variant locus | no MR -> candidate analysis |
| breast carcinoma | 0.037 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.032 | — | common-variant locus | no MR -> candidate analysis |
| morbid obesity | 0.033 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | not available |
| GWAS Catalog | 42 unique SNPs / 84 rows |
| ClinVar | 131 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 74 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘FAM171B’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 131 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 32 traits by best p-value, aggregated from 37 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q6P995 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000144369/associations — Open Targets data release 26.06gwas: https://www.ebi.ac.uk/gwas/genes/FAM171B — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FAM171B%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FAM171B — GWAS Catalog search API (live; release not exposed)